A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905249



Internal ID22680434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:195453582..195453713hg38UCSC Ensembl
chr2:196318306..196318437hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401096
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905249
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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